Varaico: Literature-Extracted Genetic Variants

Gene:PRPS1
Variant:p.V142I
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PRPS1

NM_002764.4:p.V142I

Associated Papers

Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.

Štajer K et al.

Molecular Genetics and Metabolism Reports, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."